Resumen de A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature

Ahmet Ercan Sekerci, Burhan Balta, Munis Dundar, Ying Hu, Ernst-J. Reichenberger, Osman-A. Etoz, Sinan Nazlim, Ibrahim-Sevki Bayrakdar

• Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histo - pathological laboratory tests and a review of the literature.

  Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A pan - oramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism.

  Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents.

  Both siblings had been clinically diagnosed with cherubism; however, the parents were clinically normal. Periph - eral blood was collected from all participants and genomic DNA sequencing was carried out.

  Results: A missense mutation was found in the two affected siblings and their asymptomatic mother. The mu - tation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9.

  Conclusions: The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. Genotype-phenotype association studies in individuals with cherubism are necessary to provide important insights into the molecular mechanisms associated with this disease.